123571004: Congenital anomaly of metacarpal bone (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Congenital anomaly of metacarpal bone
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone

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

Descriptions:

Id Description Lang Type Status Case? Module

192060012 Congenital anomaly of metacarpal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

726528010 Congenital anomaly of metacarpal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4767041000241113 anomalie congénitale de l'os métacarpien 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 anomaly of metacarpal bone	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Finding site	Metacarpal bone structure (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Is a	Finding of bone of upper limb	false	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Is a	Finding of bone in hand	true	Inferred relationship	Some
Congenital anomaly of metacarpal bone	Finding site	Metacarpal bone structure (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of metacarpal bone	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of metacarpal bone	Finding site	Metacarpal bone structure (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of metacarpal bone	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of metacarpal bone	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital cleft hand	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Longitudinal deficiency of metacarpal bone	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Brachymetapody	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Brachymetacarpia	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Supernumerary metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Congenital absence of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Congenital abnormal fusion of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Congenital abnormal shape of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Lack of ossification of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Congenital hypoplasia of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Congenital malposition of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Incomplete ossification of metacarpal bone	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Brachymetapody	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	Is a	True	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Transverse arrest metacarpal first ray	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some
Transverse arrest metacarpal second to fifth rays	Is a	False	Congenital anomaly of metacarpal bone	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
192060012	Congenital anomaly of metacarpal bone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
726528010	Congenital anomaly of metacarpal bone (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4767041000241113	anomalie congénitale de l'os métacarpien	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module