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

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

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

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

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

11314761000172117 syndrome CDAGS (craniosténose, surdité, anomalie anale et génito-urinaire avec éruption cutanée) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11314771000172114 syndrome de craniosynostose, anomalies anales et porokératose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11314781000172112 syndrome CAP (craniosynostose, anomalies anales et porokératose) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4905061000172115 CAP-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4905071000172112 CDAGS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4905081000172110 syndroom van craniosynostose, anale anomalieën en porokeratose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	Disorder of skull (disorder)	true	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis 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
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
11314761000172117	syndrome CDAGS (craniosténose, surdité, anomalie anale et génito-urinaire avec éruption cutanée)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11314771000172114	syndrome de craniosynostose, anomalies anales et porokératose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11314781000172112	syndrome CAP (craniosynostose, anomalies anales et porokératose)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4905061000172115	CAP-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4905071000172112	CDAGS-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4905081000172110	syndroom van craniosynostose, anale anomalieën en porokeratose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)