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722379001: Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331755010 Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331756011 Congenital cataract with hypertrichosis and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331757019 CAHMR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331758012 CAHMR (cataract, hypertrichosis, mental retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331759016 This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331760014 This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) modification de la croissance false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) modification de la croissance true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Congenital hypertrichosis (disorder) true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Congenital cataract true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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