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85559002: Pelger-Huët anomaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
141810015 Pelger-Huët anomaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
141811016 Pelger-Huet anomaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
827637012 Pelger-Huët anomaly (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1235046013 Pelger Huet anomaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4669631000241113 anomalie de Pelger-Huët fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pelger-Huët anomaly Is a Genetic anomaly of leukocyte true Inferred relationship Some
Pelger-Huët anomaly Is a Qualitative abnormality of granulocyte true Inferred relationship Some
Pelger-Huët anomaly Is a Non-malignant white cell disorder true Inferred relationship Some
Pelger-Huët anomaly Finding site Leukocyte false Inferred relationship Some
Pelger-Huët anomaly Finding site Entire hematological system (body structure) false Inferred relationship Some 1
Pelger-Huët anomaly Associated morphology Pelger-Huët cell false Inferred relationship Some 1
Pelger-Huët anomaly Finding site Hematopoietic system structure false Inferred relationship Some
Pelger-Huët anomaly Finding site Structure of immune system (body structure) false Inferred relationship Some
Pelger-Huët anomaly Has definitional manifestation Pelger-Huët cell false Inferred relationship Some
Pelger-Huët anomaly Finding site Hematopoietic system structure false Inferred relationship Some
Pelger-Huët anomaly Associated morphology White blood cell abnormality false Inferred relationship Some
Pelger-Huët anomaly Has definitional manifestation Immune system finding false Inferred relationship Some
Pelger-Huët anomaly Interprets Laboratory test false Inferred relationship Some
Pelger-Huët anomaly Finding method (attribute) Procedure false Inferred relationship Some
Pelger-Huët anomaly Interprets Genetic test (procedure) true Inferred relationship Some 2
Pelger-Huët anomaly Is a Pelger-Huët cell true Inferred relationship Some
Pelger-Huët anomaly Interprets Hematology procedure false Inferred relationship Some 1
Pelger-Huët anomaly Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Pelger-Huët anomaly Interprets White blood cell test true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. Is a True Pelger-Huët anomaly Inferred relationship Some

This concept is not in any reference sets

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