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720599002: campomélie type Cumming (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3321490013 Campomelia Cumming type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321491012 Campomelia Cumming type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321492017 Cumming syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
755701000241116 campomélie type Cumming (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
947081000172116 campomélie type Cumming fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321493010 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321494016 The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. 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
Campomelia Cumming type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Campomelia Cumming type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Campomelia Cumming type (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Campomelia Cumming type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Campomelia Cumming type (disorder) localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 2
Campomelia Cumming type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Campomelia Cumming type (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Campomelia Cumming type (disorder) morphologie associée (attribut) Congenital abnormal curvature true Inferred relationship Some 2
Campomelia Cumming type (disorder) est un(e) (attribut) anomalie morphologique congénitale true Inferred relationship Some
Campomelia Cumming type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Campomelia Cumming type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Lymphoedema true Inferred relationship Some
Campomelia Cumming type (disorder) morphologie associée (attribut) Lymphatic oedema true Inferred relationship Some 3
Campomelia Cumming type (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Congenital anomaly of limb true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) lymphœdème héréditaire false Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) déformation d'un os true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Bent bone dysplasia group true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) Deformity of limb (finding) true Inferred relationship Some
Campomelia Cumming type (disorder) morphologie associée (attribut) Congenital abnormal curvature false Inferred relationship Some 4
Campomelia Cumming type (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Campomelia Cumming type (disorder) localisation d'une constatation (attribut) Bone structure of extremity false Inferred relationship Some 4
Campomelia Cumming type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Campomelia Cumming type (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Campomelia Cumming type (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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