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767498008: Autosomal recessive congenital methemoglobinemia type II (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3672028014 Autosomal recessive congenital methaemoglobinaemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3672029018 Autosomal recessive congenital methemoglobinemia type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3672030011 Autosomal recessive congenital methemoglobinemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3672035018 Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function. 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
Autosomal recessive congenital methaemoglobinaemia type II Is a Autosomal recessive congenital methemoglobinemia (disorder) true Inferred relationship Some
Autosomal recessive congenital methaemoglobinaemia type II Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive congenital methaemoglobinaemia type II Finding site Erythrocyte true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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