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1144446007: Aplasia 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\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Aplasia of limb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Finding of upper limb\Absence of upper limb (finding)\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb (disorder)\Congenital absence of part of upper limb (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia of thumb
\Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of thumb\Aplasia 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\Congenital absence of thumb\Aplasia 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 absence of hand (disorder)\Congenital absence of thumb\Aplasia of thumb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4542002012 Aplasia of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4552208012 Aplasia of thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4542002012 Aplasia of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4552208012 Aplasia of thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of thumb	Is a	Aplasia of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of thumb	Is a	Congenital absence of thumb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of thumb	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of thumb	Finding site	Thumb structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of thumb	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia 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
Aplasia of first metacarpal bone	Is a	True	Aplasia of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of phalanx of thumb	Is a	True	Aplasia 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	True	Aplasia of thumb	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4542002012	Aplasia of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4552208012	Aplasia of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4542002012	Aplasia of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4552208012	Aplasia of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core