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771477003: gigantisme 15q (trouble)


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
770811000241118 gigantisme 15q (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
975681000172117 gigantisme 15q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
15q overgrowth syndrome morphologie associée (attribut) Partial trisomy true Inferred relationship Some 2
15q overgrowth syndrome localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 2
15q overgrowth syndrome est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
15q overgrowth syndrome est un(e) (attribut) 15q partial trisomy syndrome false Inferred relationship Some
15q overgrowth syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
15q overgrowth syndrome survenue (attribut) congénital true Inferred relationship Some 4
15q overgrowth syndrome survenue (attribut) congénital true Inferred relationship Some 1
15q overgrowth syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
15q overgrowth syndrome survenue (attribut) congénital true Inferred relationship Some 3
15q overgrowth syndrome survenue (attribut) congénital true Inferred relationship Some 2
15q overgrowth syndrome est un(e) (attribut) Multiple malformation syndrome with early overgrowth (disorder) true Inferred relationship Some
15q overgrowth syndrome localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 3
15q overgrowth syndrome morphologie associée (attribut) structure anormale sur le plan morphologique 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 localisation d'une constatation (attribut) face true Inferred relationship Some 1
15q overgrowth syndrome morphologie associée (attribut) Partial trisomy true Inferred relationship Some 4
15q overgrowth syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
15q overgrowth syndrome localisation d'une constatation (attribut) Chromosome pair 15 true Inferred relationship Some 4
15q overgrowth syndrome est un(e) (attribut) Partial duplication of long arm of chromosome 15 (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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