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733092009: Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498733012 Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3498734018 Mikati Najjar Sahli syndrome en Synonym Active Case sensitive SNOMED CT core
3498735017 Microcephalus, hypergonadotropic hypogonadism, short stature syndrome en Synonym Active Case insensitive SNOMED CT core
3499971019 Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of 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
Mikati Najjar Sahli syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Mikati Najjar Sahli syndrome Occurrence Congenital false Inferred relationship Some 2
Mikati Najjar Sahli syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Mikati Najjar Sahli syndrome Occurrence Congenital true Inferred relationship Some 1
Mikati Najjar Sahli syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Mikati Najjar Sahli syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Mikati Najjar Sahli syndrome Finding site Gonadal endocrine structure false Inferred relationship Some 1
Mikati Najjar Sahli syndrome Finding site Brain structure false Inferred relationship Some 2
Mikati Najjar Sahli syndrome Associated morphology Congenital smallness false Inferred relationship Some 2
Mikati Najjar Sahli syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Mikati Najjar Sahli syndrome Interprets Height / growth measure true Inferred relationship Some 4
Mikati Najjar Sahli syndrome Finding site Structure of head true Inferred relationship Some 1
Mikati Najjar Sahli syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Mikati Najjar Sahli syndrome Is a Congenital microcephaly true Inferred relationship Some
Mikati Najjar Sahli syndrome Has interpretation Below reference range true Inferred relationship Some 2
Mikati Najjar Sahli syndrome Interprets Birth head circumference true Inferred relationship Some 2
Mikati Najjar Sahli syndrome Finding site Gonadal endocrine structure true Inferred relationship Some 5
Mikati Najjar Sahli syndrome Has interpretation Below reference range true Inferred relationship Some 4
Mikati Najjar Sahli syndrome Is a Microcephalus false Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Congenital anomaly of brain false Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Short stature disorder true Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Mikati Najjar Sahli syndrome Is a Primary hypogonadism true Inferred relationship Some
Mikati Najjar Sahli syndrome Occurrence Congenital true Inferred relationship Some 3
Mikati Najjar Sahli syndrome Occurrence Congenital false Inferred relationship Some 4
Mikati Najjar Sahli syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Mikati Najjar Sahli syndrome Occurrence Congenital false Inferred relationship Some 5
Mikati Najjar Sahli syndrome Finding site Face structure false Inferred relationship Some 5
Mikati Najjar Sahli syndrome Associated morphology Congenital smallness false Inferred relationship Some 3
Mikati Najjar Sahli syndrome Finding site Brain structure false Inferred relationship Some 3
Mikati Najjar Sahli syndrome Finding site Gonadal endocrine structure false Inferred relationship Some 4
Mikati Najjar Sahli syndrome Finding site Face structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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