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715991005: Crane Heise syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304348011 Crane Heise syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304349015 Crane Heise syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401196017 Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401197014 Crane-Heise syndrome is a very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304348011 Crane Heise syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304349015 Crane Heise syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304354012 A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304355013 A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401196017 Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401197014 Crane-Heise syndrome is a very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454081001000119 Crane-Heise-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904991000241114 syndrome de Crane-Heise fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5904991000241114 syndrome de Crane-Heise fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454081001000119 Crane-Heise-Syndrom 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
Crane Heise syndrome (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Absence of clavicle false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Crane Heise syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crane Heise syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crane Heise syndrome (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crane Heise syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crane Heise syndrome (disorder) Finding site Bone structure of clavicle false Inferred relationship Existential restriction modifier (core metadata concept) 4
Crane Heise syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crane Heise syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crane Heise syndrome (disorder) Finding site Structure of vertebral column false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crane Heise syndrome (disorder) Is a Congenital anomaly of bone of shoulder girdle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crane Heise syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crane Heise syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crane Heise syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crane Heise syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crane Heise syndrome (disorder) Finding site Structure of vertebral column true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crane Heise syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crane Heise syndrome (disorder) Finding site Bone structure of clavicle true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crane Heise syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crane Heise syndrome (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crane Heise syndrome (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Congenital absence of part of upper limb (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Congenital absence of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Congenital anomaly of body wall false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Congenital anomaly of thorax false Inferred relationship Existential restriction modifier (core metadata concept)
Crane Heise syndrome (disorder) Is a Aplasia of clavicle true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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