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

\Absent kidney\Renal agenesis\Aniridia, renal agenesis, psychomotor retardation syndrome

\Kidney disease\Hereditary nephropathy (disorder)\Aniridia, renal agenesis, psychomotor retardation syndrome
\Kidney disease\Congenital anomaly of the kidney\Renal agenesis\Aniridia, renal agenesis, psychomotor retardation syndrome

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

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

3957521000052113 syndrom med aniridi, renal agenesi och psykomotorisk retardation sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	Congenital aniridia (disorder)	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	mental retardation	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 (disorder)	true	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	Associated morphology	Congenital absence (morphologic abnormality)	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 (morphologic abnormality)	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
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	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 (morphologic abnormality)	true	Inferred relationship	Some	2
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
3957521000052113	syndrom med aniridi, renal agenesi och psykomotorisk retardation	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)