725100001: Craniolenticulosutural dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Craniolenticulosutural dysplasia

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

\Skull finding\Fontanelle finding\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Skull finding\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disorder of head\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Craniolenticulosutural dysplasia

\Musculoskeletal finding\Bone finding\Skull finding\Fontanelle finding\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniolenticulosutural dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanel\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural 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\Congenital enlargement of fontanel\Craniolenticulosutural 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\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Craniolenticulosutural dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3438536016 Craniolenticulosutural dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3438537013 Craniolenticulosutural dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3438538015 Boyadjiev Jabs syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniolenticulosutural dysplasia	Is a	Hypertelorism	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Late fontanel closure	false	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Congenital enlargement of fontanel	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Interprets	Fontanel closure, function	false	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Craniolenticulosutural dysplasia	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	5
Craniolenticulosutural dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Craniolenticulosutural dysplasia	Finding site	Entire fontanel of skull	false	Inferred relationship	Existential restriction modifier	5
Craniolenticulosutural dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Craniolenticulosutural dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Craniolenticulosutural dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Craniolenticulosutural dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Craniolenticulosutural dysplasia	Finding site	Sphenoid bone structure	false	Inferred relationship	Existential restriction modifier	6
Craniolenticulosutural dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Craniolenticulosutural dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniolenticulosutural dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Craniolenticulosutural dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniolenticulosutural dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniolenticulosutural dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Craniolenticulosutural dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Craniolenticulosutural dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Craniolenticulosutural dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Craniolenticulosutural dysplasia	Finding site	Sphenoid bone structure	true	Inferred relationship	Existential restriction modifier	3
Craniolenticulosutural dysplasia	Finding site	Entire fontanel of skull	true	Inferred relationship	Existential restriction modifier	2
Craniolenticulosutural dysplasia	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	2
Craniolenticulosutural dysplasia	Is a	Defect of skull ossification	false	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Interprets	Bone formation, function	false	Inferred relationship	Existential restriction modifier	4
Craniolenticulosutural dysplasia	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	4
Craniolenticulosutural dysplasia	Is a	Functional finding	false	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Craniolenticulosutural dysplasia	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	2
Craniolenticulosutural dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniolenticulosutural dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
3438536016	Craniolenticulosutural dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3438537013	Craniolenticulosutural dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3438538015	Boyadjiev Jabs syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module