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723403008: Microbrachycephaly, ptosis, cleft lip syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498156014 Microbrachycephaly, ptosis, cleft lip syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498157017 Richieri Costa Guion Almeida Ramos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498158010 Microbrachycephaly, ptosis, cleft lip syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499900017 Syndrome with the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. 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
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Prolapse true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) anomalie congénitale du crâne (trouble) true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Cleft lip true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Congenital ptosis of upper eyelid true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Congenital prolapse false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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