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773307006: Zechi Ceide syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3723066017 Zechi Ceide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723067014 Occipital atretic cephalocele, unusual facies, large feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723068016 Zechi Ceide syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723069012 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723066017 Zechi Ceide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723067014 Occipital atretic cephalocele, unusual facies, large feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723068016 Zechi Ceide syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723069012 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417191001000118 Zechi-Ceide-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417191001000118 Zechi-Ceide-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
Zechi Ceide syndrome Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Is a Occipital encephalocele true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Is a Congenital anomaly of foot true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Finding site Occipital lobe structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zechi Ceide syndrome Associated morphology Congenital failure of fusion with herniated tissue false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zechi Ceide syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zechi Ceide syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Finding site Occipital lobe structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Is a Congenital anomaly of cerebrum (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Associated morphology Protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zechi Ceide syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Zechi Ceide syndrome Finding site Structure of occipitomastoid suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zechi Ceide syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Zechi Ceide syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Zechi Ceide syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Zechi Ceide syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Zechi Ceide syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 8
Zechi Ceide syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 8
Zechi Ceide syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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