FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Zechi Ceide syndrome localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Zechi Ceide syndrome est un(e) (attribut) encéphalocèle occipitale (trouble) true Inferred relationship Some
Zechi Ceide syndrome survenue (attribut) congénital true Inferred relationship Some 4
Zechi Ceide syndrome morphologie associée (attribut) Congenital protrusion (morphologic abnormality) false Inferred relationship Some 2
Zechi Ceide syndrome morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Zechi Ceide syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Zechi Ceide syndrome survenue (attribut) congénital true Inferred relationship Some 3
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Zechi Ceide syndrome est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Zechi Ceide syndrome survenue (attribut) congénital true Inferred relationship Some 1
Zechi Ceide syndrome est un(e) (attribut) Congenital anomaly of foot true Inferred relationship Some
Zechi Ceide syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
Zechi Ceide syndrome localisation d'une constatation (attribut) lobe occipital (structure corporelle) true Inferred relationship Some 2
Zechi Ceide syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Zechi Ceide syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 3
Zechi Ceide syndrome morphologie associée (attribut) Congenital failure of fusion with herniated tissue false Inferred relationship Some 5
Zechi Ceide syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Zechi Ceide syndrome localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 4
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Zechi Ceide syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Zechi Ceide syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Zechi Ceide syndrome survenue (attribut) congénital true Inferred relationship Some 2
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Zechi Ceide syndrome localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 5
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Zechi Ceide syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Zechi Ceide syndrome morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 4
Zechi Ceide syndrome localisation d'une constatation (attribut) lobe occipital (structure corporelle) false Inferred relationship Some 4
Zechi Ceide syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Zechi Ceide syndrome localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 2
Zechi Ceide syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 4
Zechi Ceide syndrome est un(e) (attribut) Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Zechi Ceide syndrome morphologie associée (attribut) Protrusion true Inferred relationship Some 2
Zechi Ceide syndrome localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 5
Zechi Ceide syndrome morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 5
Zechi Ceide syndrome survenue (attribut) congénital true Inferred relationship Some 5
Zechi Ceide syndrome localisation d'une constatation (attribut) Structure of occipitomastoid suture of skull true Inferred relationship Some 4
Zechi Ceide syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start