1145425009: Congenital hypoplasia of bone of extremity (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital hypoplasia of limb (disorder)\Congenital hypoplasia of bone of extremity (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)
\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 hypoplasia of bone of extremity (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital hypoplasia of bone of extremity (disorder)

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4545878019 Congenital hypoplasia of bone of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4545880013 Congenital hypoplasia of bone of extremity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5443719011 Congenital hypoplasia of bone of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of bone of extremity (disorder)	Finding site	Bone structure of limb	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of extremity (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of extremity (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital hypoplasia of bone of extremity (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of extremity (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypoplasia of bone of extremity (disorder)	Is a	Congenital hypoplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypoplasia of bone of lower limb (disorder)	Is a	True	Congenital hypoplasia of bone of extremity (disorder)	Inferred relationship	Some
Congenital hypoplasia of bone of upper limb (disorder)	Is a	True	Congenital hypoplasia of bone of extremity (disorder)	Inferred relationship	Some
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14.	Is a	True	Congenital hypoplasia of bone of extremity (disorder)	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
4545878019	Congenital hypoplasia of bone of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4545880013	Congenital hypoplasia of bone of extremity (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443719011	Congenital hypoplasia of bone of extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core