720430002: Acrofacial dysostosis Rodriguez type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type

\Disorder of face\Lesion of face\Acrofacial dysostosis Rodriguez type
\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type

\Disorder of head\Disorder of face\Lesion of face\Acrofacial dysostosis Rodriguez type
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Rodriguez type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrofacial dysostosis Rodriguez type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Disorder of face\Lesion of face\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Developmental hereditary disorder\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Acrofacial dysostosis Rodriguez type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Rodriguez type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3320731017 Acrofacial dysostosis Rodriguez type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3320732012 Acrofacial dysostosis Rodriguez type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrofacial dysostosis Rodriguez type	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Rodriguez type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Acrofacial dysostosis Rodriguez type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Acrofacial dysostosis Rodriguez type	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier	4
Acrofacial dysostosis Rodriguez type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Acrofacial dysostosis Rodriguez type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Rodriguez type	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Rodriguez type	Associated morphology	Abnormal shortening	false	Inferred relationship	Existential restriction modifier	5
Acrofacial dysostosis Rodriguez type	Finding site	Entire limb	false	Inferred relationship	Existential restriction modifier	5
Acrofacial dysostosis Rodriguez type	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Rodriguez type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Rodriguez type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Rodriguez type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Rodriguez type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Rodriguez type	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Rodriguez type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Rodriguez type	Associated morphology	Abnormal shortening	true	Inferred relationship	Existential restriction modifier	1
Acrofacial dysostosis Rodriguez type	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Rodriguez type	Is a	Congenital deformity	false	Inferred relationship	Existential restriction modifier
Acrofacial dysostosis Rodriguez type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Acrofacial dysostosis Rodriguez type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Acrofacial dysostosis Rodriguez type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3320731017	Acrofacial dysostosis Rodriguez type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3320732012	Acrofacial dysostosis Rodriguez type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module