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1236845001: DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5089280014 DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089281013 DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089282018 DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089283011 DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400249010 A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400250010 A rare autosomal recessive microcephalic primordial dwarfism characterised by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089280014 DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089281013 DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089282018 DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089283011 DONSON-related microcephaly, short stature, limb abnormalities spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089284017 A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbour of SON, DONSON (21q22.11), a replisome component that stabilises forks during genome replication. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5089285016 A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbor of SON, DONSON (21q22.11), a replisome component that stabilizes forks during genome replication. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400249010 A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400250010 A rare autosomal recessive microcephalic primordial dwarfism characterised by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. 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
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Primordial dwarfism true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 3
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 4
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology Abnormal smallness (morphologic abnormality) 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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