721227001: Hunter McAlpine craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Hunter McAlpine craniosynostosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324677010 Hunter McAlpine craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324679013 Hunter McAlpine craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324680011 This syndrome has characteristics of craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12714931000172113 syndrome de Hunter-McAlpine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12714941000172118 syndrome de craniosynostose de Hunter-McAlpine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12714951000172116 syndrome de craniosténose de Hunter McAlpine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4062841000172114 Hunter-McAlpine-craniostenose nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4062851000172111 syndroom van craniosynostose van Hunter-McAlpine nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Hunter McAlpine craniosynostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Hunter McAlpine craniosynostosis syndrome (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Hunter McAlpine craniosynostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hunter McAlpine craniosynostosis syndrome (disorder)	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Hunter McAlpine craniosynostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hunter McAlpine craniosynostosis syndrome (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3324677010	Hunter McAlpine craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324679013	Hunter McAlpine craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324680011	This syndrome has characteristics of craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12714931000172113	syndrome de Hunter-McAlpine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12714941000172118	syndrome de craniosynostose de Hunter-McAlpine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12714951000172116	syndrome de craniosténose de Hunter McAlpine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4062841000172114	Hunter-McAlpine-craniostenose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4062851000172111	syndroom van craniosynostose van Hunter-McAlpine	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)