770543003: Congenital hypoplasia of part of upper limb (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb

Status: current, 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

3701199019 Congenital hypoplasia of part of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3701200016 Congenital hypoplasia of part of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5966791000241119 hypoplasie congénitale d'une partie du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5966801000241115 hypoplasie du bras ou de l'avant-bras congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of part of upper limb	Finding site	Upper limb part	true	Inferred relationship	Some	1
Congenital hypoplasia of part of upper limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplasia of part of upper limb	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital hypoplasia of part of upper limb	Is a	Hypoplasia of upper limb	true	Inferred relationship	Some
Congenital hypoplasia of part of upper limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypoplasia of metacarpal bone	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of ulna	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Hypoplasia of thumb	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of radius	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of humerus	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of carpal bone	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait.	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of finger (disorder)	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of clavicle	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Undergrowth of whole hand	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.	Is a	False	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of bone of upper limb (disorder)	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of muscle of upper limb (disorder)	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some
Congenital hypoplasia of palmar crease (disorder)	Is a	True	Congenital hypoplasia of part of upper limb	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3701199019	Congenital hypoplasia of part of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701200016	Congenital hypoplasia of part of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5966791000241119	hypoplasie congénitale d'une partie du membre supérieur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5966801000241115	hypoplasie du bras ou de l'avant-bras congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module