Other reduction deformities of brain

Preferred Label : Other reduction deformities of brain;

Inclusion CIM-10 : Pachygyria; Agyria; Microgyria; Agenesis of part of brain; Absence of part of brain; Aplasia of part of brain; Lissencephaly; Hydranencephaly; Hypoplasia of part of brain;

ICD-10 exclusion note : congenital malformations of corpus callosum (Q04.0);

Diag associé à un acte (%) : 88.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q043;

UMLS CUI

C0477971;

Automatic exact mappings (from CISMeF team)
- Agyria [HPO term]
- Agyria [MedDRA LLT]
- Congenital absence of part of brain (disorder) [SNOMED CT concept]
- Hydranencephaly [ICD-11 Sub-sub category]
- Lissencephaly [ORDO Disease]
- Lissencephaly [HPO term]
- Lissencephaly [MedDRA Preferred Term]
- Lissencephaly [NCIt concept]
- Lissencephaly [PASCAL descriptor]
- Lissencephaly [OMIM phenotypic series]
- Lissencephaly (disorder) [SNOMED CT concept]
- Macrogyria (disorder) [SNOMED CT concept]
- Microgyria [NCIt concept]
- Microgyria (disorder) [SNOMED CT concept]
- Pachygyria [MedDRA Preferred Term]
- lissencephaly [Radlex concept]
- lissencephaly [DO Concept]
- lissencephaly [MeSH Descriptor]
- pachygyria [Radlex concept]
Currated CISMeF NLP mapping
- Hydranencephaly [ORDO Disease]
- Hydranencephaly [ACR pathology]
- Hydranencephaly [PASCAL descriptor]
- Hydranencephaly [HRDO Sign]
- Hydranencephaly [HPO term]
- Hydranencephaly [NCIt concept]
- Hydranencephaly [MedDRA Preferred Term]
- Hydranencephaly (disorder) [SNOMED CT concept]
- Other reduction deformities of brain [ICD-10 Sub-category (who)]
- hydranencephaly [SNOMED Notion]
- hydranencephaly [MeSH Descriptor]
- hydranencephaly [MeSH concept]
- hydranencephaly [Disease (Nov.)]
- hydranencephaly [DO Concept]
DO Cross reference
- Joubert syndrome [DO Concept]
- complex cortical dysplasia with other brain malformations 1 [DO Concept]
- complex cortical dysplasia with other brain malformations 7 [DO Concept]
- hydranencephaly [DO Concept]
- lissencephaly [DO Concept]
- pontocerebellar hypoplasia type 2D [DO Concept]
- pontocerebellar hypoplasia type 7 [DO Concept]
- pontocerebellar hypoplasia type 8 [DO Concept]
- pontocerebellar hypoplasia type 9 [DO Concept]
- short-rib thoracic dysplasia 14 with polydactyly [DO Concept]
- syndromic X-linked intellectual disability Najm type [DO Concept]
ICD-10 exclusion(s)
- Congenital malformations of corpus callosum [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Lissencephaly due to TUBA1A mutation [ORDO Disease]
- Lissencephaly type 3 [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia [ORDO Disease]
- Microlissencephaly [ORDO Disease]
- Other syndrome with lissencephaly as a major feature [ORDO Disease]
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
Orphanet concepts
- Aprosencephaly cerebellar dysgenesis [ORDO Disease]
- Autosomal recessive frontotemporal pachygyria [ORDO Disease]
- Bilateral frontal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral generalized polymicrogyria [ORDO Disease]
- Bilateral parasagittal parieto-occipital polymicrogyria [ORDO Disease]
- Bilateral perisylvian polymicrogyria [ORDO Disease]
- Bilateral polymicrogyria [ORDO Disease]
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome [ORDO Disease]
- Cerebro-oculo-facial-lymphatic syndrome [ORDO Disease]
- Classic lissencephaly [ORDO Disease]
- Cobblestone lissencephaly [ORDO Disease]
- Cobblestone lissencephaly without muscular or ocular involvement [ORDO Disease]
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [ORDO Disease]
- Craniotelencephalic dysplasia [ORDO Disease]
- Galloway-Mowat syndrome [ORDO Disease]
- Global cerebellar malformation [ORDO Disease]
- Hydranencephaly [ORDO Disease]
- Hydrocephaly-cerebellar agenesis syndrome [ORDO Disease]
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ORDO Disease]
- Isolated bilateral hemispheric cerebellar hypoplasia [ORDO Disease]
- Isolated cerebellar agenesis [ORDO Disease]
- Isolated cerebellar vermis agenesis [ORDO Disease]
- Isolated cerebellar vermis hypoplasia [ORDO Disease]
- Isolated lissencephaly type 1 without known genetic defects [ORDO Disease]
- Isolated partial cerebellar vermis agenesis [ORDO Disease]
- Isolated total cerebellar vermis agenesis [ORDO Disease]
- Isolated unilateral hemispheric cerebellar hypoplasia [ORDO Disease]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy [ORDO Disease]
- Joubert syndrome with hepatic defect [ORDO Disease]
- Joubert syndrome with ocular defect [ORDO Disease]
- Joubert syndrome with oculorenal defect [ORDO Disease]
- Joubert syndrome with renal defect [ORDO Disease]
- Lissencephaly [ORDO Disease]
- Lissencephaly due to LIS1 mutation [ORDO Disease]
- Lissencephaly due to TUBA1A mutation [ORDO Disease]
- Lissencephaly syndrome, Norman-Roberts type [ORDO Disease]
- Lissencephaly type 1 due to doublecortin gene mutation [ORDO Disease]
- Lissencephaly type 3 [ORDO Disease]
- Lissencephaly type 3-familial fetal akinesia sequence syndrome [ORDO Disease]
- Lissencephaly type 3-metacarpal bone dysplasia syndrome [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type A [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type B [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type C [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type D [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type E [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type F [ORDO Disease]
- Malformation of the cerebellar hemispheres [ORDO Disease]
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome [ORDO Disease]
- Microlissencephaly [ORDO Disease]
- Microlissencephaly type B [ORDO Disease]
- Microlissencephaly-micromelia syndrome [ORDO Disease]
- Miller-Dieker syndrome [ORDO Disease]
- Non-syndromic pontocerebellar hypoplasia [ORDO Disease]
- Occipital pachygyria and polymicrogyria [ORDO Disease]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- Other syndrome with lissencephaly as a major feature [ORDO Disease]
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome [ORDO Disease]
- Polymicrogyria [ORDO Disease]
- Polymicrogyria due to TUBB2B mutation [ORDO Disease]
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
- Pontocerebellar hypoplasia type 10 [ORDO Disease]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
- Pontocerebellar hypoplasia type 5 [ORDO Disease]
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
- Pontocerebellar hypoplasia type 7 [ORDO Disease]
- Pontocerebellar hypoplasia type 8 [ORDO Disease]
- Pontocerebellar hypoplasia type 9 [ORDO Disease]
- Rhombencephalosynapsis [ORDO Disease]
- Subcortical band heterotopia [ORDO Disease]
- Unilateral focal polymicrogyria [ORDO Disease]
- Unilateral hemispheric polymicrogyria [ORDO Disease]
- Unilateral polymicrogyria [ORDO Disease]
- X-linked intellectual disability, Najm type [ORDO Disease]
- X-linked intellectual disability-cerebellar hypoplasia syndrome [ORDO Disease]
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
- XK aprosencephaly syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- Joubert syndrome [DO Concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Pachygyria [HPO term]
- complex cortical dysplasia with other brain malformations 1 [DO Concept]
- pontocerebellar hypoplasia type 9 [DO Concept]
- short-rib thoracic dysplasia 14 with polydactyly [DO Concept]
Validated automatic mappings to NTBT
- complex cortical dysplasia with other brain malformations 7 [DO Concept]

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