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722429003: Distal limb deficiency with micrognathia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3331447019 Distal limb deficiency with micrognathia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3332024011 Distal limb deficiency with micrognathia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3332025012 10q24 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3332026013 Buttiens Fryns syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal limb deficiency with micrognathia syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a Congenital micrognathism true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a Longitudinal deficiency of limb true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a 10q partial trisomy syndrome true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Distal limb deficiency with micrognathia syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier 6
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
Distal limb deficiency with micrognathia syndrome Finding site Bone structure of mandible false Inferred relationship Existential restriction modifier 6
Distal limb deficiency with micrognathia syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Finding site Entire limb false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Associated morphology Partial trisomy false Inferred relationship Existential restriction modifier 5
Distal limb deficiency with micrognathia syndrome Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier 5
Distal limb deficiency with micrognathia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Distal limb deficiency with micrognathia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Distal limb deficiency with micrognathia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Distal limb deficiency with micrognathia syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier 2
Distal limb deficiency with micrognathia syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 1
Distal limb deficiency with micrognathia syndrome Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier 1
Distal limb deficiency with micrognathia syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 3
Distal limb deficiency with micrognathia syndrome Finding site Entire limb true Inferred relationship Existential restriction modifier 2
Distal limb deficiency with micrognathia syndrome Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier 3
Distal limb deficiency with micrognathia syndrome Is a Congenital deformity false Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 4
Distal limb deficiency with micrognathia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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