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 fontanelle\Craniolenticulosutural dysplasia
\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanelle\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 fontanelle\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 fontanelle\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 fontanelle\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanelle\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 fontanelle\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 fontanelle\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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 fontanelle\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\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 fontanelle\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\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 fontanelle\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 fontanelle\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Congenital disease\Congenital anomaly\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 fontanelle\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital enlargement of fontanelle\Craniolenticulosutural dysplasia
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438536016 Craniolenticulosutural dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3438537013 Craniolenticulosutural dysplasia en Synonym Active Case insensitive SNOMED CT core

3438538015 Boyadjiev Jabs syndrome en Synonym Active Case sensitive SNOMED CT core

3438539011 Syndrome that is characterized by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. en Definition Active Case sensitive SNOMED CT core

3438540013 Syndrome that is characterised by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary haemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3438536016	Craniolenticulosutural dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3438537013	Craniolenticulosutural dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3438538015	Boyadjiev Jabs syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3438539011	Syndrome that is characterized by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene.	en	Definition	Active	Case sensitive	SNOMED CT core
3438540013	Syndrome that is characterised by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary haemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene.	en	Definition	Active	Case sensitive	SNOMED CT core