719813003: X-linked mandibulofacial dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked mandibulofacial dysostosis

\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\X-linked mandibulofacial dysostosis

\Disorder of face\Lesion of face\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis

\Disorder of head\Disorder of face\Lesion of face\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked mandibulofacial dysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked mandibulofacial dysostosis
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked mandibulofacial dysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked mandibulofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked mandibulofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked mandibulofacial dysostosis
\Disease\Disorder of head\Disorder of face\Lesion of face\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\X-linked mandibulofacial dysostosis
\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\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\X-linked mandibulofacial dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked mandibulofacial dysostosis

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

3318001019 X-linked mandibulofacial dysostosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3318002014 X-linked mandibulofacial dysostosis en Synonym Active Entire term case sensitive SNOMED CT core module

3318003016 Mandibulofacial dysostosis Toriello 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
X-linked mandibulofacial dysostosis	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	Congenital anomaly of face bones	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Finding site	Bone structure of face	false	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
X-linked mandibulofacial dysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
X-linked mandibulofacial dysostosis	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	3
X-linked mandibulofacial dysostosis	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked mandibulofacial dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked mandibulofacial dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
X-linked mandibulofacial dysostosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
X-linked mandibulofacial dysostosis	Finding site	Bone structure of face	true	Inferred relationship	Existential restriction modifier	1
X-linked mandibulofacial dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
X-linked mandibulofacial dysostosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked mandibulofacial dysostosis	Is a	X-linked recessive hereditary disease	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
3318001019	X-linked mandibulofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3318002014	X-linked mandibulofacial dysostosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3318003016	Mandibulofacial dysostosis Toriello type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module