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770902008: Distal monosomy 12p (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
3703346014 Distal monosomy 12p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703347017 Distal deletion 12p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703348010 Distal monosomy 12p (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703349019 12p13.33 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404953010 A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404954016 A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703346014 Distal monosomy 12p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703347017 Distal deletion 12p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703348010 Distal monosomy 12p (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703349019 12p13.33 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3703350019 A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404953010 A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404954016 A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3391541001000116 Monosomie 12p, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950431000172110 del(12)(p13.33) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959731000172111 monosomie distale 12p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950431000172110 del(12)(p13.33) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959731000172111 monosomie distale 12p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391541001000116 Monosomie 12p, distale 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
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Is a Deletion of part of chromosome 12 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Is a Deletion of part of short arm of chromosome 12 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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