720812002: Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome

\Skull finding\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome

\Disorder of head\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of head\Disorder of skull\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis, anal anomaly, porokeratosis syndrome

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

3320123018 CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3322148014 CDAGS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3322150018 Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322151019 Craniosynostosis, anal anomaly, porokeratosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis, anal anomaly, porokeratosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis, anal anomaly, porokeratosis syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis, anal anomaly, porokeratosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis, anal anomaly, porokeratosis syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	1
Craniosynostosis, anal anomaly, porokeratosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Craniosynostosis, anal anomaly, porokeratosis syndrome	Is a	Disorder of skull	true	Inferred relationship	Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3320123018	CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322148014	CDAGS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322150018	Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322151019	Craniosynostosis, anal anomaly, porokeratosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module