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733116005: syndrome d'aniridie-agénésie rénale-retard psychomoteur (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498790012 Aniridia, renal agenesis, psychomotor retardation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498791011 Sommer Rathbun Battles syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498792016 Aniridia, renal agenesis, psychomotor retardation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
762981000241111 syndrome d'aniridie-agénésie rénale-retard psychomoteur (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
909341000172110 syndrome d'aniridie-agénésie rénale-retard psychomoteur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3499984011 An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. 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
Aniridia, renal agenesis, psychomotor retardation syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome survenue (attribut) congénital true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome localisation d'une constatation (attribut) iris true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) Aplasia true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Congenital aniridia (disorder) true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Mental retardation false Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Congenital glaucoma (disorder) true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Renal agenesis true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome survenue (attribut) congénital true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome survenue (attribut) congénital false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome localisation d'une constatation (attribut) Entire kidney true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome localisation d'une constatation (attribut) iris false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome 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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