Q04.2
BillableHoloprosencephaly
Holoprosencephaly
Coding Notes
Excludes 1
Codes that cannot be used together with this code (mutual exclusion)
Excludes 2
Conditions not included here, but the patient may have both
Related Codes(8)
Q04.0Congenital malformations of corpus callosum
Q04.1Arhinencephaly
Q04.3Other reduction deformities of brain
Q04.4Septo-optic dysplasia of brain
Q04.5Megalencephaly
Q04.6Congenital cerebral cysts
Q04.8Other specified congenital malformations of brain
Q04.9Congenital malformation of brain, unspecified
ICD-11 Equivalents(1)
ICD-11 Equivalents
View full mappingCorresponding ICD-11 codes from the WHO crosswalk mapping
Also Known As / Clinical Terms(100)
SNOMED CT
- Kundrat syndrome30278004
- Kundrat's syndrome30278004
- Pseudotrisomy D>1< syndrome30278004
- Familial alobar holoprosencephaly30915001
- HPE - Holoprosencephaly30915001
- Holoprosencephaly30915001
- Holoprosencephaly sequence30915001
- Congenital absence of pancreas82949000
- Cebocephalus204052006
- Cebocephaly204052006
- Agenesis of pancreas204806003
- Cingulosynapsis253136007
- Lobar holoprosencephaly253136007
- Olfactory aplasia253136007
- Alobar holoprosencephaly253137003
- Semi-lobar holoprosencephaly253138008
- Congenital stenosis of nasal pyriform aperture702644002
- Pyriform aperture stenosis702644002
- Camero Lituania Cohen syndrome715434005
- Genoa syndrome715434005
- Holoprosencephaly craniosynostosis syndrome715434005
- Holoprosencephaly and postaxial polydactyly syndrome716091000
- Pseudotrisomy 13 syndrome716091000
- Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome716169009
- Morse Rawnsley Sargent syndrome716169009
- Agnathia, holoprosencephaly, situs inversus syndrome722283003
- Hartsfield Bixler Demyer syndrome766032007
- Hartsfield syndrome766032007
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome766032007
- Holoprosencephaly with caudal dysgenesis syndrome771146007
- Middle interhemispheric variant of holoprosencephaly866053004
- Syntelencephaly866053004
- Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis890346002
- Holoprosencephaly with apertura pyriformis890346002
- Holoprosencephaly with nasal pyriformis aperture890346002
- Aplasia of pancreas1144555008
- Pancreatic aplasia1144555008
- HPE (holoprosencephaly) minor form1197215004
- Holoprosencephaly minor form1197215004
- Holoprosencephaly-like1197215004
- Microform holoprosencephaly1197215004
- Pancreatic agenesis, holoprosencephaly syndrome1222660008
UMLS
- Familial alobar holoprosencephalyC0079541
- HPE - HoloprosencephalyC0079541
- HPE, FAMILIALC0079541
- HPECC0079541
- HoloprosencephaliesC0079541
- HoloprosencephalyC0079541
- Holoprosencephaly (HPE)C0079541
- Holoprosencephaly sequenceC0079541
- Holoprosencephaly sequence (disorder)C0079541
- Single brain ventricleC0079541
- holoprosencephalyC0079541
Clinical Terms
- HPE (holoprosencephaly) minor form
- Lobar holoprosencephaly
- Pseudotrisomy 13 syndrome
- Holoprosencephaly and postaxial polydactyly syndrome
- Cebocephalus
- Holoprosencephaly with caudal dysgenesis syndrome
- Holoprosencephaly sequence (disorder)
- Holoprosencephaly minor form
- Pyriform aperture stenosis
- Congenital stenosis of nasal pyriform aperture
- HPEC
- Genoa syndrome
- Holoprosencephaly with apertura pyriformis
- Kundrat syndrome
- Middle interhemispheric variant of holoprosencephaly
- Holoprosencephaly craniosynostosis syndrome
- Hartsfield Bixler Demyer syndrome
- Semi-lobar holoprosencephaly
- Olfactory aplasia
- Pancreatic aplasia
- Syntelencephaly
- Agenesis of pancreas
- HPE - Holoprosencephaly
- Agnathia, holoprosencephaly, situs inversus syndrome
- Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
- Holoprosencephaly-like
- Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis
- Morse Rawnsley Sargent syndrome
- Pseudotrisomy D>1< syndrome
- Microform holoprosencephaly
- Holoprosencephaly sequence
- Single brain ventricle
- Alobar holoprosencephaly
- Familial alobar holoprosencephaly
- Camero Lituania Cohen syndrome
- Cingulosynapsis
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
- Hartsfield syndrome
- Pancreatic agenesis, holoprosencephaly syndrome
- HPE, FAMILIAL
- Aplasia of pancreas
- Cebocephaly
- Congenital absence of pancreas
- Holoprosencephalies
- Holoprosencephaly with nasal pyriformis aperture
- Holoprosencephaly (HPE)
- Kundrat's syndrome
Frequently Asked Questions
What is the ICD-10 code for holoprosencephaly?
The ICD-10-CM code for holoprosencephaly is Q04.2. The full clinical description is "Holoprosencephaly". Q04.2 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q04.2 mean?
ICD-10-CM code Q04.2 represents “Holoprosencephaly”. It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.
Is Q04.2 a billable code?
Yes, Q04.2 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q04.2 in?
Q04.2 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What codes cannot be used with Q04.2?
Q04.2 has Excludes1 notes indicating codes that cannot be used together with it, including: cyclopia (Q87.0); macrocephaly (Q75.3).
What SNOMED CT codes does Q04.2 map to?
Q04.2 maps to 20 SNOMED CT concepts: 204806003, 722283003, 253137003, 1144555008, 715434005, and 15 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q04.2?
Q04.2 is linked to 1 UMLS Concept Unique Identifier: C0079541. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q04.2 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like holoprosencephaly affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.
What is the ICD-11 equivalent of Q04.2?
Q04.2 maps to the ICD-11 code: LA05.2 (Holoprosencephaly).
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.