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768843007: Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3687209013 Tatton Brown Rahman overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3687210015 DNA methyltransferase 3 alpha overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3687211016 Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3687212011 DNMT3A-related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3687213018 Tatton Brown Rahman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3687214012 Tall stature, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3687215013 A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a Disorder of stature true Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a Intellectual disability (disorder) true Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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