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733116005: Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)

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
5403756016 An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by 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
5403757013 An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterised by 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
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
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
5403756016 An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by 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
5403757013 An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterised by 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
537791000274116 Sommer-Rathbun-Battles-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454071001000117 Aniridie-Nierenagenesie-psychomotorische Retardierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909341000172110 syndrome d'aniridie-agénésie rénale-retard psychomoteur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909341000172110 syndrome d'aniridie-agénésie rénale-retard psychomoteur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
537791000274116 Sommer-Rathbun-Battles-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454071001000117 Aniridie-Nierenagenesie-psychomotorische Retardierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Congenital aniridia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Angeborenes Glaukom true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Renal agenesis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Entire kidney (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Iris structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aniridia, renal agenesis, psychomotor retardation syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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