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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3498157017 Richieri Costa Guion Almeida Ramos syndrome en Synonym Active Case sensitive SNOMED CT core
3498158010 Microbrachycephaly, ptosis, cleft lip syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Upper eyelid structure true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Bone structure of cranium true Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Lip structure true Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Prolapse true Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Bone structure of head false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Interprets Intellectual ability true Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Has interpretation Impaired true Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Has interpretation Impaired true Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Is a Congenital anomaly of skull true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Cleft lip true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Intellectual disability false Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Congenital ptosis true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome Occurrence Congenital false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Bone structure of cranium false Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Lip structure false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Congenital prolapse false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Finding site Upper eyelid structure false Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 7
Microbrachycephaly, ptosis, cleft lip syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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