715421009: Craniofrontonasal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Lesion of face\Craniofrontonasal dysplasia

\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofrontonasal dysplasia

\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofrontonasal dysplasia

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Craniofrontonasal dysplasia
\Disorder of head\Disorder of face\Lesion of face\Craniofrontonasal dysplasia
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofrontonasal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofrontonasal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Craniofrontonasal dysplasia

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Craniofrontonasal dysplasia
\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 skull\Craniofrontonasal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofrontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniofrontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Craniofrontonasal dysplasia
\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 skull\Craniofrontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Craniofrontonasal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniofrontonasal dysplasia
\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 skull\Craniofrontonasal dysplasia

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302558010 Craniofrontonasal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3302559019 Craniofrontonasal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3302560012 Craniofrontonasal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofrontonasal dysplasia	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	Congenital anomaly of skull	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
Craniofrontonasal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Craniofrontonasal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniofrontonasal dysplasia	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	2
Craniofrontonasal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Craniofrontonasal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302558010	Craniofrontonasal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302559019	Craniofrontonasal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302560012	Craniofrontonasal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module