270963009: Congenital absence of thumb (disorder)

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

405470013 Congenital absence of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

663349017 Congenital absence of thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2024521000005110 Kongenit manglende tommelfinger da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of thumb	Is a	Congenital absence of finger	false	Inferred relationship	Some
Congenital absence of thumb	Is a	Underudvikling af tommelfinger	false	Inferred relationship	Some
Congenital absence of thumb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Finger structure	false	Inferred relationship	Some	1
Congenital absence of thumb	Finding site	Musculoskeletal structure of thumb	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital absence of thumb	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Congenital absence of thumb	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Finding site	Finger structure	false	Inferred relationship	Some	3
Congenital absence of thumb	Finding site	Musculoskeletal structure of thumb	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Finger structure	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Musculoskeletal structure of thumb	false	Inferred relationship	Some	3
Congenital absence of thumb	Finding site	Finger structure	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Musculoskeletal structure of thumb	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Congenital absence of thumb	Finding site	Finger structure	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Musculoskeletal structure of thumb	false	Inferred relationship	Some	3
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Thumb structure	true	Inferred relationship	Some	1
Congenital absence of thumb	Is a	Finding of thumb	false	Inferred relationship	Some
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Is a	Perodaktyli	false	Inferred relationship	Some
Congenital absence of thumb	Is a	Congenital absence of hand (disorder)	true	Inferred relationship	Some
Congenital absence of thumb	Finding site	Thumb structure	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of thumb	Is a	Congenital malformation of thumb (disorder)	true	Inferred relationship	Some
Congenital absence of thumb	Is a	Absence of hand	false	Inferred relationship	Some
Congenital absence of thumb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of thumb	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of thumb	Finding site	Thumb structure	false	Inferred relationship	Some	2
Congenital absence of thumb	Is a	Adactyly	true	Inferred relationship	Some
Congenital absence of thumb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of thumb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of thumb	Finding site	Entire thumb	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of thumb	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An exceedingly rare, autosomal recessive immune disease characterized 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 absence of thumb	Inferred relationship	Some
Aplasia of thumb	Is a	True	Congenital absence of thumb	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
405470013	Congenital absence of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
663349017	Congenital absence of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2024521000005110	Kongenit manglende tommelfinger	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)