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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3498791011 Sommer Rathbun Battles syndrome en Synonym Active Case sensitive SNOMED CT core
3498792016 Aniridia, renal agenesis, psychomotor retardation syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Pathological developmental process true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Iris structure true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Aplasia true Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Agenesis true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Interprets Intellectual ability true Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation Impaired true Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation Impaired true Inferred relationship Some 4
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Congenital aniridia true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Intellectual disability false Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Congenital glaucoma true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Renal agenesis true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Hereditary nephropathy true Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology Congenital absence false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence Congenital false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Entire kidney true Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Finding site Iris structure false Inferred relationship Some 3
Aniridia, renal agenesis, psychomotor retardation syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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