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717771007: Cloverleaf skull with multiple congenital anomalies 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
3310437018 Cloverleaf skull with multiple congenital anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310439015 Cloverleaf skull with multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401588019 This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401589010 This newly described syndrome is characterised by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310437018 Cloverleaf skull with multiple congenital anomalies syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310437018 Cloverleaf skull with multiple congenital anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310439015 Cloverleaf skull with multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310439015 Cloverleaf skull with multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310440018 This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401588019 This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401589010 This newly described syndrome is characterised by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448091001000111 Kleeblattschädel - multiple kongenitale Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950861000172118 syndrome de crâne en trèfle-anomalies congénitales multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950861000172118 syndrome de crâne en trèfle-anomalies congénitales multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448091001000111 Kleeblattschädel - multiple kongenitale Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Cloverleaf skull syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of lambdoid suture of skull (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of sagittal suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 11
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 11
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 11
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of coronal suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Entire limb false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of sagittal suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of lambdoid suture of skull (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of coronal suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of lambdoid suture of skull (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of sagittal suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of lambdoid suture of skull (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Finding site Structure of coronal suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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