394910004: Congenital malformation of thumb (disorder)

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

\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb
\Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of thumb	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of thumb	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of thumb	Finding site	Hand structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Finding site	Hand structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Is a	Perodactylia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of thumb	Is a	Finding of thumb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of thumb	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Finding site	Thumb structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of thumb	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of thumb	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of thumb	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation of thumb	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation of thumb	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalosyndactyly type V (disorder)	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoplasia of thumb	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndactyly of thumb (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of thumb	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Bifid thumb	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Polydactyly of thumb	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb in palm deformity	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital trigger finger and trigger thumb	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Triphalangeal thumb	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Lung agenesis with heart defect and thumb anomaly syndrome	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
pollice a scatto congenito	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile spasm and broad thumb syndrome (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrodactyly of thumb	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	Is a	False	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
MASA syndrome	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder)	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Radial polydactyly	Is a	True	Congenital malformation of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1468850012	Congenital malformation of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1488614011	Congenital malformation of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006593019	Congenital anomaly of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1468850012	Congenital malformation of thumb (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1468850012	Congenital malformation of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1488614011	Congenital malformation of thumb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1488614011	Congenital malformation of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006593019	Congenital anomaly of thumb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3006593019	Congenital anomaly of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5250081000241112	malformation congénitale du pouce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5250081000241112	malformation congénitale du pouce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module