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722051004: Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)


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 Reference Sets
3330392018 Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3330393011 Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3330394017 Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3777473016 Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
2083651000172112 "syndrome d'obésité, colite, hypothyroïdie, hypertrophie cardiaque, retard de développement" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2083641000172110 "syndroom van obesitas, colitis, hypothyroïdie, cardiale hypertrofie en ontwikkelingsachterstand" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2083661000172114 "syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Colitis true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Congenital hypothyroidism true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Developmental delay true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Has definitional manifestation Obesity (disorder) false Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Thyroid structure false Inferred relationship Some 7
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Inflammation false Inferred relationship Some 8
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Colon structure false Inferred relationship Some 8
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Congenital hypertrophy false Inferred relationship Some 9
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Heart structure false Inferred relationship Some 9
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 6
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 6
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Obesity (disorder) true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Interprets Body weight measure true Inferred relationship Some 5
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Heart structure true Inferred relationship Some 3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a Congenital anomaly of large intestine true Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Thyroid structure true Inferred relationship Some 4
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Inflammation false Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Finding site Colon structure true Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Some 3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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