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49984004: FG syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
83254013 FG syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
787722011 FG syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
83254013 FG syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
787722011 FG syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
787722011 FG syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
FG syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
FG syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
FG syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
FG syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
FG syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
FG syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
FG syndrome Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
FG syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
FG syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
FG syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Is a True FG syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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