702361006: Crouzon syndrome with acanthosis nigricans (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\...

\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans

\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

\Functional finding\Abnormal keratinization\Disorder of keratinization\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Acanthosis nigricans\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Developmental hereditary disorder\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Fibroblast growth factor receptor 3-related craniosynostosis\Crouzon syndrome with acanthosis nigricans
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Crouzon syndrome\Crouzon syndrome with acanthosis nigricans

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2995059010 Crouzon syndrome with acanthosis nigricans (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2995457019 Crouzon syndrome with acanthosis nigricans en Synonym Active Entire term case sensitive SNOMED CT core module

3010153011 Crouzonodermoskeletal syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crouzon syndrome with acanthosis nigricans	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Is a	Acanthosis nigricans	true	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Is a	Crouzon syndrome	true	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Crouzon syndrome with acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Crouzon syndrome with acanthosis nigricans	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Crouzon syndrome with acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Crouzon syndrome with acanthosis nigricans	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier	5
Crouzon syndrome with acanthosis nigricans	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier	5
Crouzon syndrome with acanthosis nigricans	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier
Crouzon syndrome with acanthosis nigricans	Finding site	Structure of integumentary system	true	Inferred relationship	Existential restriction modifier	4
Crouzon syndrome with acanthosis nigricans	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	1
Crouzon syndrome with acanthosis nigricans	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	1
Crouzon syndrome with acanthosis nigricans	Associated morphology	Congenital premature fusion	true	Inferred relationship	Existential restriction modifier	3
Crouzon syndrome with acanthosis nigricans	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier	3
Crouzon syndrome with acanthosis nigricans	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome with acanthosis nigricans	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome with acanthosis nigricans	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Crouzon syndrome with acanthosis nigricans	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Crouzon syndrome with acanthosis nigricans	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome with acanthosis nigricans	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome with acanthosis nigricans	Is a	Fibroblast growth factor receptor 3-related craniosynostosis	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
2995059010	Crouzon syndrome with acanthosis nigricans (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2995457019	Crouzon syndrome with acanthosis nigricans	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3010153011	Crouzonodermoskeletal syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module