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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Skull finding\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \affection de la tête\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of skull (disorder)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Craniosynostosis, anal anomaly, porokeratosis 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
3320123018	CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322148014	CDAGS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322150018	Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322151019	Craniosynostosis, anal anomaly, porokeratosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322149018	A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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