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771477003: 15q overgrowth syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706385010 15q overgrowth syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706387019 15q overgrowth syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706389016 A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706390013 A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
975681000172117 gigantisme 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
957881000172112 15q overgroeisyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
15q overgrowth syndrome Associated morphology Partial trisomy true Inferred relationship Some 2
15q overgrowth syndrome Finding site Long arm of chromosome true Inferred relationship Some 2
15q overgrowth syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
15q overgrowth syndrome Is a trisomie partielle 15q false Inferred relationship Some
15q overgrowth syndrome Is a Intellectual disability true Inferred relationship Some
15q overgrowth syndrome Occurrence Congenital true Inferred relationship Some 4
15q overgrowth syndrome Occurrence Congenital true Inferred relationship Some 1
15q overgrowth syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
15q overgrowth syndrome Occurrence Congenital true Inferred relationship Some 3
15q overgrowth syndrome Occurrence Congenital true Inferred relationship Some 2
15q overgrowth syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
15q overgrowth syndrome Finding site Kidney structure true Inferred relationship Some 3
15q overgrowth syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
15q overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
15q overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
15q overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
15q overgrowth syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
15q overgrowth syndrome Finding site Face structure true Inferred relationship Some 1
15q overgrowth syndrome Associated morphology Partial trisomy true Inferred relationship Some 4
15q overgrowth syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
15q overgrowth syndrome Finding site Chromosome pair 15 true Inferred relationship Some 4
15q overgrowth syndrome Is a Partial duplication of long arm of chromosome 15 (disorder) true Inferred relationship Some
15q overgrowth syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
15q overgrowth syndrome Has interpretation Impaired true Inferred relationship Some 5
15q overgrowth syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
15q overgrowth syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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