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


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330392018 Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3330393011 Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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