ICD-11 code : LA05.2;
Preferred Label : Holoprosencephaly;
ICD-11 definition : Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the
prosencephalon, occurring between the 18th and the 28th day of gestation and affecting
both the forebrain and the face. In most of the cases, facial anomalies are observed:
cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and
ocular hypotelorism or solitary median maxillary central incisor in minor forms. These
latter midline defects can occur without the cerebral malformations (microforms).
Children with HPE have many medical problems: developmental delay and feeding difficulties,
epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders
like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and
growth hormone deficiency are frequent.;
ICD-11 synonym : HPE - [holoprosencephaly];
ICD-11 acronym : HPE;
Origin ID : 1712699129;
UMLS CUI : C0079541;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the
prosencephalon, occurring between the 18th and the 28th day of gestation and affecting
both the forebrain and the face. In most of the cases, facial anomalies are observed:
cyclopia, proboscis and median or bilateral cleft lip/palate in severe forms, and
ocular hypotelorism or solitary median maxillary central incisor in minor forms. These
latter midline defects can occur without the cerebral malformations (microforms).
Children with HPE have many medical problems: developmental delay and feeding difficulties,
epilepsy, and instability of temperature, heart rate and respiration. Endocrine disorders
like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and
growth hormone deficiency are frequent.
